家族性高コレステロール血症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000527.5(LDLR):c.478T>C (p.Cys160Arg)	LDLR	Pathogenic/Likely pathogenic	19	11216060	11216060	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584939,LDLR-LOVD, British Heart Foundation:LDLR_000721
single nucleotide variant	NM_000527.5(LDLR):c.478T>G (p.Cys160Gly)	LDLR	Pathogenic/Likely pathogenic	19	11216060	11216060	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584940,LDLR-LOVD, British Heart Foundation:LDLR_000355
Deletion	NM_000527.5(LDLR):c.482_488del (p.Ile161fs)	LDLR	Pathogenic	19	11216064	11216070	GCATCCCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584942,LDLR-LOVD, British Heart Foundation:LDLR_001744
single nucleotide variant	NM_000527.5(LDLR):c.485C>T (p.Pro162Leu)	LDLR	Likely pathogenic	19	11216067	11216067	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584943,LDLR-LOVD, British Heart Foundation:LDLR_000871
single nucleotide variant	NM_000527.5(LDLR):c.493T>G (p.Trp165Gly)	LDLR	Likely pathogenic	19	11216075	11216075	T	G	criteria provided, single submitter	ClinGen:CA10584945,LDLR-LOVD, British Heart Foundation:LDLR_001745
single nucleotide variant	NM_000527.5(LDLR):c.495G>A (p.Trp165Ter)	LDLR	Pathogenic	19	11216077	11216077	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584946,LDLR-LOVD, British Heart Foundation:LDLR_000064
single nucleotide variant	NM_000527.5(LDLR):c.499T>C (p.Cys167Arg)	LDLR	Pathogenic/Likely pathogenic	19	11216081	11216081	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584947,LDLR-LOVD, British Heart Foundation:LDLR_000918
single nucleotide variant	NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11216082	11216082	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584948,LDLR-LOVD, British Heart Foundation:LDLR_001746
single nucleotide variant	NM_000527.5(LDLR):c.501C>G (p.Cys167Trp)	LDLR	Pathogenic/Likely pathogenic	19	11216083	11216083	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584949,LDLR-LOVD, British Heart Foundation:LDLR_001748
single nucleotide variant	NM_000527.5(LDLR):c.502G>C (p.Asp168His)	LDLR	Pathogenic/Likely pathogenic	19	11216084	11216084	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584950,LDLR-LOVD, British Heart Foundation:LDLR_000065,UniProtKB:P01130#VAR_005321